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Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted.
Alsina Casanova, Miguel; Monteagudo-Sánchez, Ana; Rodiguez Guerineau, Luciana; Court, Franck; Gazquez Serrano, Isabel; Martorell, Loreto; Rovira Zurriaga, Carlota; Moore, Gudrun E; Ishida, Miho; Castañon, Montserrat; Moliner Calderon, Elisenda; Monk, David; Moreno Hernando, Julio.
Afiliación
  • Alsina Casanova M; Department of Neonatology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
  • Monteagudo-Sánchez A; Imprinting and Cancer Group, Cancer Epigenetic and Biology Program, Bellvitge Biomedical Research Institute, Hospital Duran & Reynals, Barcelona, Spain.
  • Rodiguez Guerineau L; Department of Neonatology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
  • Court F; Genetics, Reproduction and Development laboratories (GreD), CNRS, UMR6247, Clermont Université, INSERM U931, Clermont-Ferrand, France.
  • Gazquez Serrano I; Department of Neonatology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
  • Martorell L; Laboratory of Molecular Genètics, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
  • Rovira Zurriaga C; Department of Pathology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
  • Moore GE; Genetics and Genomic Medicine Programme, Institute of Child Health, University College London, London, UK.
  • Ishida M; Genetics and Genomic Medicine Programme, Institute of Child Health, University College London, London, UK.
  • Castañon M; Department of Surgery, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
  • Moliner Calderon E; Section of Neonatology, Department of Pediatrics, Hospital Sant Pau, Barcelona, Spain.
  • Monk D; Imprinting and Cancer Group, Cancer Epigenetic and Biology Program, Bellvitge Biomedical Research Institute, Hospital Duran & Reynals, Barcelona, Spain.
  • Moreno Hernando J; Department of Neonatology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Hum Mutat ; 38(6): 615-620, 2017 06.
Article en En | MEDLINE | ID: mdl-28256047
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare cause of pulmonary hypertension in newborns. Maternally inherited point mutations in Forkhead Box F1 gene (FOXF1), deletions of the gene, or its long-range enhancers on the maternal allele are responsible for this neonatal lethal disorder. Here, we describe monozygotic twins and one full-term newborn with ACD and gastrointestinal malformations caused by de novo mutations of FOXF1 on the maternal-inherited alleles. Since this parental transmission is consistent with genomic imprinting, the parent-of-origin specific monoallelic expression of genes, we have undertaken a detailed analysis of both allelic expression and DNA methylation. FOXF1 and its neighboring gene FENDRR were both biallelically expressed in a wide range of fetal tissues, including lung and intestine. Furthermore, detailed methylation screening within the 16q24.1 regions failed to identify regions of allelic methylation, suggesting that disrupted imprinting is not responsible for ACDMPV.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome de Circulación Fetal Persistente / Alveolos Pulmonares / Impresión Genómica / Factores de Transcripción Forkhead Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn / Pregnancy Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: España

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome de Circulación Fetal Persistente / Alveolos Pulmonares / Impresión Genómica / Factores de Transcripción Forkhead Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn / Pregnancy Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: España